Relier Pairs Med Genetic 3Version en ligne FOREIGN par Anthony Flish 1 X-linked Recessive Pedigree 2 Autosomal Recessiv Inheritance 3 Autosomal Codominant Inheritance 4 Y-linked 5 X-linked Recessive 6 Duchenne Muscular Dystrophy lacks Dystrophin which interact with actin as well as dystroglycan-sarcoglycan. stablizes sarcolemma 7 carrier frequency 8 p2+2pq+q2 and p+q=1 9 Sex Reversal Syndrome 10 Leber's Hereditary Optic Neuropathy, cause blindess, mitochondrial disease 11 X-linked Dominant Pedigree 12 Red-Green Color Blindess 13 X-Linked Dominant inheritance 14 Autosomal Dominant inheritance 15 Hemophilia A or B is X-Linked recessive Disorder. Which lacks? Mutated gene for NADH Dehydrogenase. -Tend to skip generation -affected offspring born to unaffected parents. -equal frequency between both sex. lacks clotting factor VIII or IX. lack light absorbing protein "Opsin" increase intracellular Ca2+, activation depend on protease. Kinase level in blood (20x). Clumsy. Becker Muscular Dystrophy is less severe. 2 alleles at locus produce 2 different phenotypes that appear in heterozygote (i.e. A,B,O blood group).. Emphysema (a1-antitrypsin) loss of SRY gene, gonad dysgenesis. affect both sex. appear in every generation. (CAN CAUSE NEW AUTOSOMAL DOMINANT MUTATION) 2pq No Father to Son transmission . Fragile X syndrome FMR1 protein. (CGG)-Arginine. Hardy Weinberg Equation
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